Submissions for variant NM_031889.3(ENAM):c.588+1dup

dbSNP: rs752102959

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000490006	SCV000577764	pathogenic	not provided	2015-05-22	criteria provided, single submitter	clinical testing	The c.588+1dupG duplication in the ENAM gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.588+1dupG variant destroys the canonical splice donor site in intron 8. This duplication is predicted to activate a cryptic splice donor site one nucleotide downstream, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.588+1dupG duplication was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.588+1dupG as a pathogenic variant.
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg	RCV003153663	SCV003842323	likely pathogenic	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	2023-03-01	criteria provided, single submitter	clinical testing